Detalhe da pesquisa
1.
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Hum Genet
; 137(3): 279-280, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29435658
2.
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Hum Genet
; 137(2): 111-127, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29305691
3.
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
J Med Genet
; 54(10): 665-673, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28780564
4.
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
PLoS Genet
; 11(7): e1005386, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26197441
5.
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
Neurobiol Dis
; 98: 36-51, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27890673
6.
Phenotypic subregions within the split-hand/foot malformation 1 locus.
Hum Genet
; 135(3): 345-57, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26839112
7.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG Adv
; 4(2): 100181, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36785559
8.
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Hum Mutat
; 33(8): 1251-60, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22539353
9.
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
Mov Disord
; 27(8): 1034-40, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22736418
10.
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Genes (Basel)
; 13(1)2022 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052489
11.
Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration.
Sci Adv
; 8(36): eabh2868, 2022 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36070393
12.
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
Am J Med Genet A
; 155A(12): 2964-9, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22052739
13.
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Am J Med Genet A
; 155A(6): 1298-313, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21538838
14.
Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.
Eur J Med Genet
; 64(9): 104265, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34171448
15.
Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.
Front Cell Dev Biol
; 9: 664317, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33968938
16.
Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.
Audiol Neurootol
; 15(4): 211-20, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19893302
17.
Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.
Laryngoscope
; 129(11): 2574-2579, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633822
18.
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Am J Med Genet A
; 146A(8): 1017-25, 2008 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18348273
19.
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
Eur J Hum Genet
; 14(10): 1097-105, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16773128
20.
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
Hum Mutat
; 26(4): 374-83, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16114042